Article
Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
Prenatal diagnosis - 1 Jul 1995
Krook A, Bell J A, Robertson M E, Brueton L, O'Rahilly S
Abstract excerpt
We report on the prenatal diagnosis of a fetus at risk of leprechaunism. We had previously determined the nature of the causative mutation in the insulin receptor gene in this family. The mutation removes a restriction site for the enzyme Mbo II. Genomic DNA was extracted from a chorionic villus sample and the 3' half of exon 2 was amplified by the polymerase chain reaction (PCR) followed by restriction digest....
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